loading...| Preferred Name | maple syrup urine disease type 1B | |
| Synonyms |
MSUD due to deficiency of E1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex MSUD type IB MSUD type 3 (formerly) maple syrup urine disease type 1B |
|
| Definitions |
A maple syrup urine disease caused by mutations in BCKDHB. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0023692 |
|
| database_cross_reference |
OMIM:620698 MEDGEN:443951 UMLS:C2930990 GARD:8597 |
|
| definition |
A maple syrup urine disease caused by mutations in BCKDHB. |
|
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C2930990 |
|
| has_exact_synonym |
maple syrup urine disease type 1B |
|
| has_related_synonym |
MSUD due to deficiency of E1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex MSUD type IB MSUD type 3 (formerly) |
|
| id |
MONDO:0023692 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#otar |
|
| label |
maple syrup urine disease type 1B |
|
| notation |
MONDO:0023692 |
|
| preferred label |
maple syrup urine disease type 1B |
|
| prefLabel |
maple syrup urine disease type 1B |
|
| see also |
https://rarediseases.info.nih.gov/diseases/8597/maple-syrup-urine-disease-type-1b |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0023692 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0023692 | DOVES | SAME_URI | |
| http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535711 | RH-MESH | LOOM | |
| http://purl.bioontology.org/ontology/MESH/C535711 | MESH | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0023692 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0023692 | DOVES | LOOM |